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Title: Chromosomal breakage in human spermatozoa, a heterozygous effect of the bloom syndrome mutation

Abstract

The chromosome complements of 662 spermatozoa produced by the three fathers of individuals with Bloom syndrome (BS) were analyzed to determine whether the BS mutation could affect chromosome segregation and the frequency of aneuploidy in sperm. The frequency of numerical abnormalities was not significantly different from that in normal controls studied in our laboratory, but the frequencies of structural abnormalities were significantly increased in two of the men, 14.3% and 15.9%, versus 8.6% in controls. More striking was the increase in these two men of cells with multiple structural abnormalities: 8.1% and 6.7% with multiple abnormalities, versus 2.3% in controls.

Authors:
 [1];  [2];  [3]
  1. Univ. of Calgary (Canada)
  2. Northwestern Univ. Medical School, Chicago, IL (United States)
  3. New York Blood Center, NY (United States)
Publication Date:
OSTI Identifier:
56736
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: 6; Other Information: PBD: Dec 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOMES; ANEUPLOIDY; CHROMOSOMAL ABERRATIONS; HUMAN POPULATIONS; HEREDITARY DISEASES; RECESSIVE MUTATIONS; SPERMATOZOA; SOMATIC MUTATIONS; PHENOTYPE; SOMATIC CELLS; BANDING TECHNIQUES; KARYOTYPE

Citation Formats

Martin, R H, Rademaker, A, and German, J. Chromosomal breakage in human spermatozoa, a heterozygous effect of the bloom syndrome mutation. United States: N. p., 1994. Web.
Martin, R H, Rademaker, A, & German, J. Chromosomal breakage in human spermatozoa, a heterozygous effect of the bloom syndrome mutation. United States.
Martin, R H, Rademaker, A, and German, J. 1994. "Chromosomal breakage in human spermatozoa, a heterozygous effect of the bloom syndrome mutation". United States.
@article{osti_56736,
title = {Chromosomal breakage in human spermatozoa, a heterozygous effect of the bloom syndrome mutation},
author = {Martin, R H and Rademaker, A and German, J},
abstractNote = {The chromosome complements of 662 spermatozoa produced by the three fathers of individuals with Bloom syndrome (BS) were analyzed to determine whether the BS mutation could affect chromosome segregation and the frequency of aneuploidy in sperm. The frequency of numerical abnormalities was not significantly different from that in normal controls studied in our laboratory, but the frequencies of structural abnormalities were significantly increased in two of the men, 14.3% and 15.9%, versus 8.6% in controls. More striking was the increase in these two men of cells with multiple structural abnormalities: 8.1% and 6.7% with multiple abnormalities, versus 2.3% in controls.},
doi = {},
url = {https://www.osti.gov/biblio/56736}, journal = {American Journal of Human Genetics},
number = 6,
volume = 55,
place = {United States},
year = {Thu Dec 01 00:00:00 EST 1994},
month = {Thu Dec 01 00:00:00 EST 1994}
}